For patients of this condition, abdominal pain  and pain in the sides is the first symptom that is noticed [7].  The pain arises as a result of hypernephroma, renal colic, nephrolithiasis, cyst enlargement and internal bleeding. 

Other common presentations for this disease includes:

• Kidney stones
• High blood pressure
• Persistent infections of the kidney
• Protein in the urine
• Swollen abdomen (often accompanying the abdominal pain)

• Pain

  Manage pain A health care provider needs to find the source of your pain before he or she can treat it. [niddk.nih.gov]

  For patients of this condition, abdominal pain and pain in the sides is the first symptom that is noticed. The pain arises as a result of hypernephroma, renal colic, nephrolithiasis, cyst enlargement and internal bleeding. [symptoma.com]

  Chronic, unrelenting pain may require the involvement of a pain management specialist. Different strategies have been tried, including transcutaneous stimulation, use of local injections of anaesthetic and renal denervation. [patient.info]

  Pain medicines may be recommended by your healthcare provider. This may include over-the-counter or prescription pain medicine. Ask your healthcare provider what pain medicine is best for you. Some pain medicines may be harmful to your kidneys. [drugs.com]

• Anemia

  headache, secondary vascular lesions of the brain, visual impairment Lower back and lower abdomen pain Recurrent infections of the kidneys and urinary tract Development of kidney stones and renal colic attacks Hematuria - blood in the urine Severe anemia [hmcisrael.com]

  The first patient had undergone a splenectomy for anemia 2 months previously. Because there is no radical cure for CHF, and due to economic reasons, neither patient received liver transplantation. [ncbi.nlm.nih.gov]

  Health problems that may result from PKD include: Anemia Bleeding or rupture of cysts Long-term (chronic) kidney disease End-stage kidney disease High blood pressure Infection of liver cysts Kidney stones Liver failure (mild to severe) Repeated urinary [nlm.nih.gov]

  […] the liver Enlarged liver Heart murmurs or other signs of aortic insufficiency or mitral insufficiency High blood pressure Growths in the kidneys or abdomen Tests that may be done include: Cerebral angiography Complete blood count (CBC) to check for anemia [mountsinai.org]

  They may initially order: a complete blood count (CBC) looking for anemia or signs of infection a urinalysis looking for blood and/or protein Your health care provider may use imaging tests to look for cysts of the kidney, liver, and other organs. [dxline.info]

• Recurrent Urinary Tract Infection

  A 56-year-old woman with autosomal-dominant polycystic kidney disease and recurrent urinary tract infections was admitted to the hospital with suspicion of pyelonephritis. [ncbi.nlm.nih.gov]

  He reports a history of recurrent urinary tract infections and his family history is significant for his mother who died of a "brain bleed" at age 42. Vital signs are significant for a blood pressure of 158/105 mmHg. [smartypance.com]

  Common symptoms include pain in the back and/or abdomen, hematuria, recurrent urinary tract infection, kidney stones, and kidney failure. [news-medical.net]

  These include: anemia (insufficient red blood cells) bleeding or bursting of cysts high blood pressure cysts on the liver and/or liver failure kidney stones recurrent urinary tract infections (UTIs) cardiovascular disease brain aneurysms What Is the Outlook [dxline.info]

  Frequent complications of polycystic kidney disease include dangerously high blood pressure ( hypertension ), pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones, and heart valve abnormalities. [ghr.nlm.nih.gov]

• Fatigue

  We ask about general symptoms (anxious mood, depressed mood, fatigue, pain, and stress) regardless of condition. Last updated: May 13, 2019 [patientslikeme.com]

  In other cases, fatigue, nausea, and other consequences of chronic kidney disease may result because the person has less functioning kidney tissue. Sometimes cysts may rupture, causing a fever that may last for weeks. [msdmanuals.com]

  […] symptoms of PKD include: pain or tenderness in the abdomen blood in the urine frequent urination pain in the sides urinary tract infection (UTI) kidney stones Other symptoms include: pain or heaviness in the back skin that bruises easily pale skin color fatigue [dxline.info]

  This can cause a rising pulse rate, chest pain, fatigue, palpitations, shortness of breath and fainting. [rarediseases.org]

• Weight Loss

  Excessive water consumption, excessive urine volume, weight loss, vomiting, lethargy, chronic and ultimately fatal renal failure [antagene.com]

  CLINICAL PRESENTATION: We report the case of a 56-year-old woman with ADPKD and severe weight loss secondary to a giant hepatic cyst compressing the pylorus. [ncbi.nlm.nih.gov]

  Other studies in rats ( 19 ) and mice ( 20 ) have described weight loss caused by rapamycin. Long-term treatment with rapamycin has not been reported to cause weight loss in adults or children ( 21, 22 ). [jasn.asnjournals.org]

  When the kidneys are no longer able to remove waste from the blood, toxins build up causing symptoms such as: Not feeling well Lack of energy Nausea Vomiting Difficulty breathing Weight loss Difficulty concentrating Depression Dialysis removes excess [davita.com]

  Weight loss. Itchy skin. Muscle cramps. Swollen feet. Puffiness around the eyes. Being pale due to anaemia. Feeling sick (nausea). As the kidney function declines from stage 4 to 5, you are likely to feel more unwell. [patient.info]

• Abdominal Pain

  For patients of this condition, abdominal pain and pain in the sides is the first symptom that is noticed. The pain arises as a result of hypernephroma, renal colic, nephrolithiasis, cyst enlargement and internal bleeding. [symptoma.com]

  A 38-year-old man presented with dull aching abdominal pain, recent onset respiratory distress along with bilateral pedal swelling. [ncbi.nlm.nih.gov]

  Adult polycystic kidney disease (ADPKD ) is one of the most common human genetic disorders (autosomal dominant) > 30 years old, + family history, and abdominal mass (flank) In a young patient with hypertension and flank/abdominal pain think PKD Accounts [smartypance.com]

• Abdominal Mass

  Whenever patients present with resistant hypertension and a palpable abdominal mass, the diagnosis of ADPKD should be entertained ." [smartypance.com]

  Symptoms usually develop between age 30 and 40 (but they can begin as early as childhood), and may include the following: Abdominal pain Detectable abdominal mass Pale color to skin Bruise easily High blood pressure Kidney stones Aneurysms (bulging of [stanfordchildrens.org]

  The diagnosis may be suspected because of enlarged, echogenic kidneys on an obstetric sonogram, on a newborn's sonogram obtained to evaluate abdominal masses or renal insufficiency, or on an older child's sonogram obtained to evaluate portal hypertension [emedicine.com]

• Left Upper Quadrant Pain

  A 42-year-old man known to have autosomal dominant polycystic kidney disease presented with sudden left-upper-quadrant pain and hypotension. Sonography performed in the emergency department showed echogenic fluid in the left upper quadrant. [emedicine.com]

• Hypertension

  AIMS: To study the effect of TIPSS on portal hypertension, liver and kidney function and the long term complications. MATERIALS AND METHODS: We report on 5 children with CHF treated with a TIPSS to manage severe portal hypertension related symptoms. [ncbi.nlm.nih.gov]

  Patients presenting in childhood often have portal hypertension. Long-term survivors with ARPKD develop portal hypertension secondary to hepatic fibrosis. [emedicine.com]

  Hypertension is a common presenting feature. 10-15% of affected children are hypertensive, and 50% of affected adults have normal renal function. Hypertension is associated with left ventricular hypertrophy. [patient.info]

• Mitral Valve Prolapse

  Characterised by renal cysts, extrarenal cysts, intracranial aneurysms and dolichoectasias (elongated and distended arteries), aortic root dilation and aneurysms, mitral valve prolapse, and abdominal wall hernias. [bestpractice.bmj.com]

  Connective tissue findings include intracranial aneurysms, dolichoectasia, dilation of the aortic root, aortic dissections, mitral valve prolapse, and abdominal wall hernias. Fifty percent of individuals with ADPKD will develop ESRD by age 60. [ltd.aruplab.com]

  valve prolapse left ventricular hypertrophy The diagnostic test of choice is ULTRASONOGRAPHY which shows fluid-filled cysts, CT scan will show large renal size and multiple thin-walled cysts Anemia may be noted on complete blood count Urinalysis: proteinuria [smartypance.com]

  valve prolapse Children with autosomal recessive PKD may have symptoms such as: high blood pressure urinary tract infection (UTI) frequent urination Symptoms in children may resemble other disorders. [dxline.info]

  valve prolapse anemia, or insufficient red blood cells bleeding or bursting of cysts high blood pressure liver failure kidney stones heart disease The goal of PKD treatment is to manage symptoms and avoid complications. [healthline.com]

• Hepatosplenomegaly

  In rarer cases, individuals may present during childhood or adulthood with hepatosplenomegaly. Of those who survive the neonatal period, one-third progress to end-stage renal disease and up to one-half develop chronic renal insufficiency. [mayomedicallaboratories.com]

  The sonogram may show hepatosplenomegaly, echogenic livers, and ectatic bile ducts that contain nodular protrusions or bridge formation across the ductal lumen (see the images). [emedicine.com]

• Headache

  Aneurysms in the brain might cause headaches that are severe or feel different from other headaches. See a health care provider even before you take over-the-counter pain medicines for severe headaches or headaches that won’t go away. [niddk.nih.gov]

  Headaches that are severe or that seem to feel different from other headaches might be caused by aneurysms-blood vessels that balloon out in spots-in the brain. These aneurysms could rupture, which can have severe consequences. [transplant.surgery.ucsf.edu]

  You have a very bad headache, or you have frequent headaches. You have swelling in any part of your body. You have pain in your abdomen. You have yellowing of your eyes or skin. You see blood in your urine. [drugs.com]

• Kidney Failure

  About 50 percent of people with PKD will have kidney failure by age 60, and about 60 percent will have kidney failure by age 70. People with kidney failure will need dialysis or a kidney transplant. [kidney.org]

  Half of patients develop kidney failure, on average around age 54; 23,000 were on dialysis or had a transplant for kidney failure in 2003, making it this country's fourth leading cause of kidney failure. [sciencedaily.com]

  Treating high blood pressure can help delay kidney failure. References [niddk.nih.gov]

  PKD and kidney failure Kidney failure occurs when you are left with less than 10-15% of total kidney function. When the kidneys fail, dialysis treatment or a kidney transplant is needed. Not everyone with PKD will go on to develop kidney failure. [kidney.ca]

• Hematuria

  Polycystic kidney disease (Lecture) Presentation Lecture Pearls Diagnosis Treatment Flashcards Patient will present as → a 34-year-old male with hematuria and flank/abdominal pain. He denies any recent trauma. [smartypance.com]

  Urinalysis detects mild proteinuria and microscopic or macroscopic hematuria. Gross hematuria may be due to a dislodged calculus or to hemorrhage from a ruptured cyst. [merckmanuals.com]

  Characteristic symptoms early in the process include pain, hematuria, urinary tract infection, kidney stones, and obstructive uropathy with cessation of urination. Copyright 2007. An Elsevier publication. All rights reserved. [web.archive.org]

  Small cysts in the collecting ducts of the inner kidney characterize medullary sponge kidney (MSK), which is associated with hematuria and kidney stones, but not chronic renal failure. [healthcommunities.com]

  Cystic hemorrhages usually resolve within one week, although microscopic hematuria may still be present. [aafp.org]

• Flank Pain

  Adult polycystic kidney disease (ADPKD ) is one of the most common human genetic disorders (autosomal dominant) > 30 years old, + family history, and abdominal mass (flank) In a young patient with hypertension and flank/abdominal pain think PKD Accounts [smartypance.com]

  The symptoms include abdominal or flank pain, blood in the urine (caused by blood vessels breaking in the cysts), kidney stones, and recurring bladder or kidney infections. [healthcentral.com]

  They seek to control symptoms, lower blood pressure, and prevent urine infections and flank pain. [cochrane.org]

  Pain is the most common symptom in those with ADPKD and may present as back, chest, abdominal, or flank pain, or a combination. 1, 14 Although pain may be secondary to cyst rupture or the enlarged kidney compressing surrounding structures, it can also [aafp.org]

  At the age of 15, the patient experienced an episode of severe flank pain associated with macrohaematuria. [academic.oup.com]

• Uremic Fetor

  fetor, dry skin, edema) Testing Routine laboratory studies include the following: Serum chemistry profile, including calcium and phosphorus CBC count from cysts Urinalysis Urine culture Uric acid determination Intact PTH assay Genetic testing may be [emedicine.com]

• Nocturia

  Complications associated with renal disease Impaired urine concentrating capacity is a common early presentation with problems associated with excessive water and salt loss such as nocturia. [patient.info]

  Damage to the kidneys in ADPKD may be slowly progressive and can cause a variety of symptoms including weakness and fatigue, changes in appetite, puffiness or swelling, back pain, poor digestion, nausea and vomiting and nocturia (night-time urination) [rarediseases.org]

The procedure of choice in dealing with cases of ADPKD is ultrasonography [8]. It is also very important when screening the family member of patients. Computed tomography (CT), magnetic resonance imaging as well as magnetic resonance angiography can also be useful in selected cases. There are other important diagnostic studies to be performed. These include:

• Serum chemistry profile, including calcium and phosphorus
• Complete blood cell count
• Urinalysis
• Urine culture
• Uric acid determination
• Intact parathyroid hormone assay

• Nephrolithiasis

  Complications: Metanephric abscesses; hypertension; berry aneurysms of Circle of Willis; nephrolithiasis; and RCC (1-5% of cases). CRF beginning at age 40-60 years. ~1/2 requires dialysis by age 50. advertisement advertisement [auanet.org]

  The pain arises as a result of hypernephroma, renal colic, nephrolithiasis, cyst enlargement and internal bleeding. [symptoma.com]

  Nephrolithiasis is twice as common in persons with ADPKD compared with the general population and is suggested by flank pain with or without hematuria. [aafp.org]

  Kidney Stones (Nephrolithiasis) Individuals with ADPKD should drink plenty of water as a preventive (prophylactic) measure against the formation of kidney stones. [rarediseases.org]

  […] caused by any of the following: Enlargement of one or more cysts Bleeding: May be confined inside the cyst or lead to gross hematuria with passage of clots or a perinephric hematoma UTI (eg, acute pyelonephritis, infected cysts, perinephric abscess) Nephrolithiasis [emedicine.com]

• Multiple Renal Cysts

  One of three children had classical multiple small cysts throughout the kidneys, and the other two children had bilateral multiple renal cysts of various sizes. Two children had abnormally shaped livers, portal hypertension and splenomegaly. [ncbi.nlm.nih.gov]

  Renal findings include: bilateral renal cysts, renal insufficiency, renal pain, hypertension, dilated renal tubules, enlarged kidneys, and end-stage renal disease (ESRD). [ltd.aruplab.com]

  Figure 1 An explanted polycystic kidney demonstrating the massive enlargement due to multiple cysts. The main complications associated with renal cysts include renal failure, cyst infection and haemorrhage, renal stones and pain. [nature.com]

  Autosomal dominant polycystic kidney disease (ADPKD) is characterized by dysregulated tubular epithelial cell growth, resulting in the formation of multiple renal cysts and progressive renal failure. [ndt.oxfordjournals.org]

• Pyuria

  […] hypertrophy The diagnostic test of choice is ULTRASONOGRAPHY which shows fluid-filled cysts, CT scan will show large renal size and multiple thin-walled cysts Anemia may be noted on complete blood count Urinalysis: proteinuria, hematuria, and commonly, pyuria [smartypance.com]

  Pyuria is common even without bacterial infection; thus diagnosis of infection should be based on culture results and clinical findings (eg, dysuria, fever, flank pain) as well as urinalysis. [merckmanuals.com]

• Creatinine Increased

  Patient one was diagnosed at 6 months, and at age 21 had a pregnancy complicated by transient worsening of renal function (creatinine increase from 1.15 to 1.78 mg/dL). [ncbi.nlm.nih.gov]

Treatment of this condition is focused on the following [9]:

• Controlling of blood pressure
• Controlling of abnormalities related to renal failure
• Treatment of urinary tract infections
• Treatment of hematuria
• Reduction of abdominal pain as a result of enlarged kidneys. 

In patients with ADPKD that progresses to end-stage renal disease, hemodialysis, peritoneal dialysis or renal transplantation may be required.

Prognosis in patients with ADPKD is complicated as it covers a wide spectrum [6]. Renal failure has been reported in children and on the other hand, individuals with ADPKD may also live a normal lifespan without ever knowing that they have this disorder.

In typical cases however, ADPKD brings about progressive renal dysfunction which often results in grossly enlarged kidneys and kidney failure when patients are in their 40s and 60s. The size of the polycystic kidneys and the level of glomerular infiltration share an inverse association.

According to an early study, around 70% if patients with ADPKD will develop renal insufficiency if they are able to survive to 65 years of age.

ADPKD is a hereditary disorder and as the name implies, the pattern of inheritance is autosomal-dominant [3]. Since the disorder occurs equally in both males and females, every offspring has a 50% chance of inheriting the mutation responsible for it and thus the disease.

ADPKD is a genetically heterogeneous condition which naturally involves at least 2 genes. The PKD1 is found on 16p13.3 and is responsible for most ADPKD cases. PKD2 is found on 4q21-q22 and accounts for only 15% of ADPKD cases.

In North America and Europe, ADPKD is responsible for 6-10% of end stage renal disease cases (ESRD) [4]. An approximate of 1 per 800-100 population carries a mutation for this condition.

Approximately, 85-90% of patients with ADPKD have ADPKD1 and majority of the remaining patients have ADPKD2.

The condition is slightly more severe in males than in females but this difference is not significant statistically.  The symptoms of the disorder often increase with age but children very rarely present with renal failure as a result of ADPKD.

Herein we review the current understanding of the pathophysiology of these conditions, as well as the current treatments derived from our understanding of the mechanisms of these diseases. [ncbi.nlm.nih.gov]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Autosomal recessive polycystic kidney disease (ARPKD) is a disorder caused by mutations in the polycystic kidney and hepatic [mayomedicallaboratories.com]

Polycystic kidney disease can only be prevented at conception when parents with the disorder discusses with a genetic counsellor to work out the risk of passing on the disease to an offspring [10].

However, adults with the condition can take preventive measures to prevent complications that are common with this disease. One of the main ways to achieve this is by managing the blood pressure. To keep the blood pressure in check - below are some important pointers.

• Blood pressure medications must be adhered to strictly as prescribed by the doctors.
• Diets must be of the low salt variety and must contain lots of fruits, whole grains and vegetables.
• A healthy weight must be maintained.
• Smoking habit must be dropped by smokers.
• Regular exercise (30 minutes of moderate physical activity) should be encouraged. 

Polycystic kidney disease (PCKD or PKD) is a cystic disorder of the kidney [1]. The disease is genetic.

There are two main types of PKD. The autosomal-dominant polycystic kidney disease (ADPKD), which is most popular and covered in this piece, and the rare autosomal-recessive polycystic kidney disease (ARPKD).

A common feature of PKD is the presence of multiple cysts in both kidneys. However some cases present with observable disease in only one kidney and majority of cases progress to bilateral disease well into adulthood [2]. The kidneys are enlarged in this condition because the cysts are numerous and fluid filled. Apart from the kidneys which are the primary targets, the disease can also damage the liver, pancreas and in very rare cases, the heart and brain. The two major forms of polycystic kidney diseases are distinguished by their inheritance patterns.

Polycystic kidney disease is an inherited condition where clusters of cysts occur in the kidney. Cysts are round sacs that contain water-like fluid. The sacs are not cancerous and can vary in size as they accumulate more fluid. They can also grow very large.

Even though the kidneys are affected most severely, polycystic kidney disease can make cysts develop in other areas of the body. The disease is known for its ability to bring about different types of complications.

Two of the most common complications of PKD are high blood pressure and kidney failure.

Polycystic kidney disease varies greatly in its severity and majority of the complications can be prevented. Lifestyle changes as well as medical treatments can easily help in the reduction of damage to the kidneys as a result of complications.